Canonical Allele Identifier: CA3530620

Gene: SGCD

Linked Data

• ClinVar Variation Id: 352335
• ClinVar RCV Id: RCV000282447 ; RCV000392260 ; RCV000424458 ; RCV000731143 ; RCV000770208 ; RCV001084791
• dbSNP Id: rs368838376
• ExAC: 5:156074481 G / A
• gnomAD v2: 5-156074481-G-A
• gnomAD v3: 5-156647471-G-A
• gnomAD v4: 5-156647471-G-A
• MyVariant Identifiers: chr5:g.156074481G>A (hg19) ; chr5:g.156647471G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156647471G>A , CM000667.2:g.156647471G>A	GRCh38
NC_000005.9:g.156074481G>A , CM000667.1:g.156074481G>A	GRCh37
NC_000005.8:g.156007059G>A	NCBI36
NG_008693.2:g.782128G>A , LRG_205:g.782128G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000337851.9:c.510G>A MANE Select	ENSP00000338343.4:p.Glu170=
ENST00000337851.8:c.510G>A	ENSP00000338343.4:p.Glu170=
ENST00000435422.7:c.507G>A	ENSP00000403003.2:p.Glu169=
ENST00000517913.5:c.510G>A	ENSP00000429378.1:p.Glu170=
NM_000337.5:c.510G>A , LRG_205t1:c.510G>A	NP_000328.2:p.Glu170=
NM_001128209.1:c.507G>A	NP_001121681.1:p.Glu169=
NM_172244.2:c.510G>A	NP_758447.1:p.Glu170=
XM_005265966.3:c.510G>A	XP_005266023.1:p.Glu170=
XM_005265967.1:c.502+52420G>A	XP_005266024.1:n.502+52420G>A
XM_006714911.2:c.510G>A	XP_006714974.1:p.Glu170=
XM_011534621.1:c.507G>A	XP_011532923.1:p.Glu169=
XM_005265966.5:c.510G>A	XP_005266023.1:p.Glu170=
XM_005265967.2:c.502+52420G>A	XP_005266024.1:n.502+52420G>A
XM_011534621.2:c.507G>A	XP_011532923.1:p.Glu169=
XM_017009723.2:c.510G>A	XP_016865212.1:p.Glu170=
XM_017009724.1:c.510G>A	XP_016865213.1:p.Glu170=
NM_001128209.2:c.507G>A	NP_001121681.1:p.Glu169=
NM_172244.3:c.510G>A	NP_758447.1:p.Glu170=
NM_000337.6:c.510G>A MANE Select	NP_000328.2:p.Glu170=